Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 21 variants

NM_001277353.2

p.K58E

c.172A>G

NM_001277353.2

p.N59fs

c.175_176fs

NM_001277353.2

p.M63I

c.189G>T

NM_001277353.2

p.K76fs

c.226_227fs

NM_001277353.2

p.K76delFs

c.226_227delTT

NM_001277353.2

p.D166N

c.496G>A

NM_001277353.2

p.V173A

c.518T>C

NM_001277353.2

p.L210L

c.630A>G

NM_001277353.2

p.A223V

c.668C>T

NM_001277353.2

p.A223A

c.669C>T

NM_001277353.2

p.K226_L227del2

c.676_680del6

NM_001277353.2

p.L242M

c.724T>A